title: Autophagy receptor CALCOCO2/NDP52 takes center stage in Crohn disease.
abstract: To advance understanding of the complex genetics of Crohn disease (CD) we sequenced 42 whole exomes of patients with CD and five healthy control individuals, resulting in identification of a missense mutation in the autophagy receptor calcium binding and coiled-coil domain 2 (CALCOCO2/NDP52) gene. Protein domain modeling and functional studies highlight the potential role of this mutation in controlling NFKB signaling downstream of toll-like receptor (TLR) pathways. We summarize our recent findings and discuss the role of autophagy as a major modulator of proinflammatory signaling in the context of chronic inflammation.
authors.affiliation: Institute of Clinical Molecular Biology; Christian-Albrechts-University of Kiel; Kiel, Germany; Subramani Lab and San Diego Center for Systems Biology; University of California San Diego; La Jolla, CA USA.
authors.forename: Andreas
authors.initials: A
authors.lastname: Till
authors.forename: Simone
authors.initials: S
authors.lastname: Lipinski
authors.forename: David
authors.initials: D
authors.lastname: Ellinghaus
authors.forename: Gabriele
authors.initials: G
authors.lastname: Mayr
authors.forename: Suresh
authors.initials: S
authors.lastname: Subramani
authors.forename: Philip
authors.initials: P
authors.lastname: Rosenstiel
authors.forename: Andre
authors.initials: A
authors.lastname: Franke
mesh_terms: D003093:Colitis, Ulcerative / Q000235:genetics*; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*
chemical_list: D009687:Nuclear Proteins; D012097:Repressor Proteins
keywords: CALCOCO2; Crohn disease; NDP52; NF-kappaB; adaptophagy; autophagy; inflammation; toll-like receptor